Association of TNFAIP3 With Immune-mediated TTP

Association of the TNFAIP3 Genomic Locus With Immune-mediated TTP

This study aims to investigate whether genetic variation in the TNFAIP3 locus is associated with immune-mediated thrombotic thrombocytopenic purpura (iTTP), and whether such association is mediated by decreased expression of A20 (TNFAIP3). The study includes a case-control design to assess genotype-expression association and a cohort study to evaluate clinical outcomes such as disease relapse.

Patients:

Inclusion Criteria:

• Diagnosis of iTTP
• Above 12 years of age
• Caucasian, Italian origin
• Written informed consent to participate in the study

Exclusion Criteria:

• Patients who do not meet the above-listed criteria will be excluded from participation in the study.

Controls will be healthy Italian volunteers of Caucasian ethnicity, with no history of thrombotic thrombocytopenic purpura, frequency-matched to cases by age and sex, and who have provided written informed consent to participate in the study.